A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237636



Internal ID22373927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:130170..199516hg38UCSC Ensembl
Outerchr11:130170..199516hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3815744
hg1915744
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255744, nssv14255741, nssv14255742, nssv14255743
SamplesHG00731, HG00732, HG00733, HG00513
Known GenesLINC01001, LOC653486, ODF3, SCGB1C1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237636
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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